Nucleotide Polymorphisms In Primary Intraocular Lymphoma

没有已知的潜在遗传缺陷使患者易患原发性眼内淋巴瘤（PIOL）。发现易致PIOL发展的遗传因素将有利于PIOL的早期诊断、预后分期和开发新的治疗方法。直到最近，研究癌症病因的遗传方法依赖于基于传统孟德尔遗传模式的连锁方法。许多疾病可能是多种遗传因素的结果，因此不太适合使用传统的连锁分析和定位克隆方法来分离单个基因。单核苷酸多态性（snp）是人类基因组中最常见的变异来源。单核苷酸多态性是DNA序列的单碱基差异，可以在一个群体中的个体之间观察到。SNP是根据在一个或多个人群中至少1%的患病率来定义的。snp以1/1000碱基对的平均频率存在于整个基因组中。我们建议在生物学上合理的基因编码框架内分析snp的频率，这些基因负责先天免疫系统的功能。白细胞介素是一种特殊的途径，因为先前的研究表明，PIOL患者的玻璃体体液和脊髓液中白细胞介素10和6的比例失调，导致这些或其他白细胞介素的功能或表达改变可能导致这种罕见恶性肿瘤的发展。目前还没有结果。

There is no known underlying genetic defect predisposing patients to develop primary intraocular lymphoma (PIOL). Discovery of genetic factors predisposing to the development of PIOL would be of benefit for early diagnosis, prognostic staging, and development of novel treatments for PIOL. Until recently, genetic approaches to investigate the etiology of cancer have relied upon methods utilizing linkage based on traditional Mendelian inheritance patterns. It is probable that many diseases are a consequence of multiple genetic factors, and are therefore less amenable to study using traditional methods of linkage analysis and positional cloning to isolate single genes. Single nucleotide polymorphisms (SNPs) are the most common sources of variation in the human genome. SNPs are single-base differences in the DNA sequence that can be observed among individuals in a population. A SNP is defined on the basis of a frequency of at least 1% prevalence in one or more populations. SNPs are present throughout the genome at an average frequency of 1/1000 base pairs. We propose to analyze the frequency of SNPs specifically within the coding frames of biologically plausible genes responsible for function of the innate immune system. The interleukins are a specific pathway of interest because previous research has demonstrated derangements in the ratios of interleukins 10 and 6 in the vitreous humor and spinal fluid of patients with PIOL, leading to the hypothesis that altered function or expression of these or other interleukins could permit the development of this rare malignancy. No results have yet been obtained.